{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274029",
  "communityStandardTitle": [
    "NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=226635",
        "active": true,
        "id": "COSM226635"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186768[alleleid]",
        "alleleId": 186768,
        "preferredName": "NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188844",
        "RCV": [
          "RCV000169194",
          "RCV001831988",
          "RCV001380985"
        ],
        "variationId": 188844
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-87679359-G-A",
        "id": "8-87679359-G-A",
        "variant": "8:87679359 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.87679359G>A?assembly=hg19",
        "id": "chr8:g.87679359G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.86667131G>A?assembly=hg38",
        "id": "chr8:g.86667131G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768345097",
        "rs": 768345097
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-87679359-G-A?dataset=gnomad_r2_1",
        "id": "8-87679359-G-A",
        "variant": "8:87679359 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-86667131-G-A?dataset=gnomad_r3",
        "id": "8-86667131-G-A",
        "variant": "8:86667131 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-86667131-G-A?dataset=gnomad_r4",
        "id": "8-86667131-G-A",
        "variant": "8:86667131 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 86667131,
          "referenceAllele": "G",
          "start": 86667130
        }
      ],
      "hgvs": [
        "NC_000008.11:g.86667131G>A",
        "CM000670.2:g.86667131G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 87679359,
          "referenceAllele": "G",
          "start": 87679358
        }
      ],
      "hgvs": [
        "NC_000008.10:g.87679359G>A",
        "CM000670.1:g.87679359G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 87748475,
          "referenceAllele": "G",
          "start": 87748474
        }
      ],
      "hgvs": [
        "NC_000008.9:g.87748475G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81545,
          "referenceAllele": "C",
          "start": 81544
        }
      ],
      "hgvs": [
        "NG_016980.1:g.81545C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.6:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:p.Arg216Ter",
        "hgvsWellDefined": "ENSP00000316605.5:p.Arg216_Gln809delinsLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.646C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.646C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:p.Arg216Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:p.Arg216Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000681746.1:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505959.1:p.Arg216Ter",
        "hgvsWellDefined": "ENSP00000505959.1:p.Arg216_Leu562delinsLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysAlaArgCysSerGlySerArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.5:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:p.Arg216Ter",
        "hgvsWellDefined": "ENSP00000316605.5:p.Arg216_Gln809delinsLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274030",
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.4:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:p.Arg216Ter",
        "hgvsWellDefined": "NP_061971.3:p.Arg216_Gln809delinsLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "XM_011517138.1:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515440.1:p.Arg78Ter",
        "hgvsWellDefined": "XP_011515440.1:p.Arg78_Gln671delinsLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "XM_011517138.2:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515440.1:p.Arg78Ter",
        "hgvsWellDefined": "XP_011515440.1:p.Arg78_Gln671delinsLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274030",
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.5:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:p.Arg216Ter",
        "hgvsWellDefined": "NP_061971.3:p.Arg216_Gln809delinsLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.646C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.646C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:p.Arg216Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:p.Arg216Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}